Mutagenetix > Incidental Mutation

Incidental Mutation 'R4181:Cmpk2'

319746

Institutional Source

Beutler Lab

Gene Symbol

Cmpk2

Ensembl Gene

ENSMUSG00000020638

Gene Name

cytidine/uridine monophosphate kinase 2

Synonyms

TDKI, Tyki, 1200004E04Rik

MMRRC Submission

041017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26519203-26529836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26527046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 345 (V345A)

Ref Sequence

ENSEMBL: ENSMUSP00000020969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020969]

AlphaFold

Q3U5Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020969
AA Change: V345A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: V345A

Domain	Start	End	E-Value	Type
low complexity region	97	112	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:Thymidylate_kin	257	438	2.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221826

Meta Mutation Damage Score

0.2597

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

92% (48/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,540,279 (GRCm39)	Y1445C	probably damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Atp11b	A	G	3: 35,854,714 (GRCm39)	K284R	probably benign	Het
Atp11b	A	G	3: 35,843,707 (GRCm39)	T185A	probably damaging	Het
Bcas1	A	G	2: 170,260,547 (GRCm39)	V44A	probably benign	Het
Carmil3	G	A	14: 55,741,412 (GRCm39)	D1066N	probably benign	Het
Cfap251	T	C	5: 123,431,873 (GRCm39)	I549T	probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Clic4	A	G	4: 134,953,350 (GRCm39)	V98A	probably benign	Het
Col6a3	A	T	1: 90,735,336 (GRCm39)	I771N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,486 (GRCm39)		probably null	Het
Cyp7a1	C	T	4: 6,271,205 (GRCm39)	G317E	probably benign	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Dnhd1	T	A	7: 105,343,161 (GRCm39)	W1502R	probably damaging	Het
Drc1	T	C	5: 30,513,057 (GRCm39)	V377A	probably benign	Het
Fyb1	A	G	15: 6,610,404 (GRCm39)	N326D	probably benign	Het
Gapdh	C	T	6: 125,142,197 (GRCm39)		probably benign	Het
Gm973	A	G	1: 59,590,399 (GRCm39)	Y302C	possibly damaging	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Gtpbp3	C	T	8: 71,944,111 (GRCm39)	T285I	probably damaging	Het
Hnrnpul1	T	C	7: 25,426,237 (GRCm39)	D538G	probably damaging	Het
Kif26b	G	A	1: 178,742,991 (GRCm39)	S582N	probably damaging	Het
Lgals4	T	C	7: 28,535,437 (GRCm39)	V107A	possibly damaging	Het
Lmbr1l	A	T	15: 98,806,601 (GRCm39)	L270Q	possibly damaging	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lpcat3	C	T	6: 124,680,187 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 40,501,446 (GRCm39)	T219I	probably damaging	Het
Man2a2	T	A	7: 80,001,487 (GRCm39)	E1140V	possibly damaging	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or7g30	C	T	9: 19,353,031 (GRCm39)	A274V	possibly damaging	Het
Or8k53	A	T	2: 86,177,581 (GRCm39)	H176Q	probably damaging	Het
Pdss1	T	C	2: 22,805,517 (GRCm39)	I265T	probably damaging	Het
Piezo2	T	C	18: 63,257,801 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,592,832 (GRCm39)	N106I	probably benign	Het
Rbbp6	A	G	7: 122,593,958 (GRCm39)	Y568C	probably damaging	Het
Rorc	G	A	3: 94,294,500 (GRCm39)	C33Y	probably damaging	Het
Ssc4d	T	C	5: 135,990,778 (GRCm39)	E470G	possibly damaging	Het
Tnxb	T	G	17: 34,928,428 (GRCm39)	V2614G	possibly damaging	Het
Trip11	A	T	12: 101,860,027 (GRCm39)	D282E	probably damaging	Het
Ttn	G	T	2: 76,706,811 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,073,097 (GRCm39)		probably benign	Het
Wiz	T	C	17: 32,586,959 (GRCm39)	E117G	probably damaging	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het

Other mutations in Cmpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Cmpk2	APN	12	26,527,177 (GRCm39)	missense	probably damaging	1.00
IGL03306:Cmpk2	APN	12	26,521,442 (GRCm39)	missense	possibly damaging	0.77
R0090:Cmpk2	UTSW	12	26,528,021 (GRCm39)	missense	probably benign	0.00
R0245:Cmpk2	UTSW	12	26,519,517 (GRCm39)	missense	probably benign	0.01
R0369:Cmpk2	UTSW	12	26,527,150 (GRCm39)	nonsense	probably null
R0610:Cmpk2	UTSW	12	26,528,055 (GRCm39)	missense	possibly damaging	0.84
R1370:Cmpk2	UTSW	12	26,521,451 (GRCm39)	missense	probably damaging	1.00
R1897:Cmpk2	UTSW	12	26,524,046 (GRCm39)	missense	probably damaging	1.00
R4210:Cmpk2	UTSW	12	26,519,570 (GRCm39)	missense	probably benign	0.00
R4544:Cmpk2	UTSW	12	26,528,016 (GRCm39)	missense	probably damaging	1.00
R5689:Cmpk2	UTSW	12	26,519,766 (GRCm39)	missense	probably benign	0.10
R6378:Cmpk2	UTSW	12	26,519,415 (GRCm39)	missense	possibly damaging	0.49
R6383:Cmpk2	UTSW	12	26,528,019 (GRCm39)	missense	probably benign	0.05
R6597:Cmpk2	UTSW	12	26,524,144 (GRCm39)	missense	possibly damaging	0.95
R6978:Cmpk2	UTSW	12	26,527,018 (GRCm39)	missense	probably damaging	1.00
R7332:Cmpk2	UTSW	12	26,528,061 (GRCm39)	missense	probably damaging	1.00
R8316:Cmpk2	UTSW	12	26,524,136 (GRCm39)	missense	probably damaging	1.00
R8441:Cmpk2	UTSW	12	26,527,204 (GRCm39)	missense	probably benign	0.20
R9176:Cmpk2	UTSW	12	26,524,027 (GRCm39)	missense	probably benign	0.04
R9275:Cmpk2	UTSW	12	26,519,568 (GRCm39)	missense	probably benign	0.01
R9278:Cmpk2	UTSW	12	26,519,568 (GRCm39)	missense	probably benign	0.01
R9459:Cmpk2	UTSW	12	26,528,022 (GRCm39)	missense	probably damaging	0.98
R9506:Cmpk2	UTSW	12	26,519,850 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACCTTTAGTACTGTGGTTGACTC -3'
(R):5'- ATTGGCCTCAAGTTCAGCC -3'

Sequencing Primer
(F):5'- TGACTCTGAGTTTTGTGTTTTCTAC -3'
(R):5'- GGCCTCAAGTTCAGCCTCTTC -3'

Posted On

2015-06-10